PPKDFN
MCID: KRT058
MIFTS: 27

Keratoderma, Palmoplantar, with Deafness (PPKDFN)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Keratoderma, Palmoplantar, with Deafness

MalaCards integrated aliases for Keratoderma, Palmoplantar, with Deafness:

Name: Keratoderma, Palmoplantar, with Deafness 58 76 13
Palmoplantar Keratoderma with Deafness 26 38 74
Keratoderma Palmoplantar Deafness 54 30 6
Palmoplantar Hyperkeratosis-Hearing Loss Syndrome 26 60
Palmoplantar Keratoderma-Hearing Loss Syndrome 26 60
Palmoplantar Hyperkeratosis-Deafness Syndrome 26 60
Palmoplantar Keratoderma-Deafness Syndrome 26 60
Ppk-Deafness Syndrome 26 60
Focal Palmoplantar Keratoderma with Sensorineural Deafness 54
Palmoplantar Keratoderma and Sensorineural Deafness 54
Hereditary Palmoplantar Keratoderma with Deafness 54
Diffuse Palmoplantar Keratoderma with Deafness 54
Keratoderma Palmoplantar, with Deafness 54
Keratoderma Palmoplantar, Deafness 41
Ppk with Deafness 26
Ppkdfn 76

Characteristics:

Orphanet epidemiological data:

60
palmoplantar keratoderma-deafness syndrome
Inheritance: Autosomal dominant,Mitochondrial inheritance; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
allelic to deafness, autosomal recessive 1, , deafness, autosomal dominant 3, , vohwinkel syndrome, , keratitis-ichthyosis-deafness syndrome, , hystrix-like ichthyosis with deafness, , bart-pumphrey syndrome,


HPO:

33
keratoderma, palmoplantar, with deafness:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 148350
KEGG 38 H00716
MeSH 45 D007645
MESH via Orphanet 46 C536152
ICD10 via Orphanet 35 Q82.8
UMLS via Orphanet 75 C1835672
Orphanet 60 ORPHA2202
MedGen 43 C1835672
UMLS 74 C1835672

Summaries for Keratoderma, Palmoplantar, with Deafness

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2202Disease definitionPalmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.Visit the Orphanet disease page for more resources.

MalaCards based summary : Keratoderma, Palmoplantar, with Deafness, also known as palmoplantar keratoderma with deafness, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and palmoplantar keratosis. An important gene associated with Keratoderma, Palmoplantar, with Deafness is GJB2 (Gap Junction Protein Beta 2). Affiliated tissues include skin, and related phenotypes are sensorineural hearing impairment and palmoplantar keratoderma

Genetics Home Reference : 26 Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound. It begins in early childhood and gets worse over time. Affected individuals have particular trouble hearing high-pitched sounds.

UniProtKB/Swiss-Prot : 76 Keratoderma, palmoplantar, with deafness: An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high- frequency, sensorineural deafness.

Description from OMIM: 148350

Related Diseases for Keratoderma, Palmoplantar, with Deafness

Diseases related to Keratoderma, Palmoplantar, with Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
2 palmoplantar keratosis 10.2
3 nonsyndromic deafness 9.5 MT-TS1 GJB2

Symptoms & Phenotypes for Keratoderma, Palmoplantar, with Deafness

Human phenotypes related to Keratoderma, Palmoplantar, with Deafness:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
2 palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000982
3 hearing impairment 33 HP:0000365
4 hyperkeratosis 60 Very frequent (99-80%)
5 palmoplantar hyperkeratosis 33 HP:0000972

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
palmoplantar hyperkeratosis

Head And Neck Ears:
hearing loss, high frequency, slowly progressive (onset in early childhood)

Clinical features from OMIM:

148350

Drugs & Therapeutics for Keratoderma, Palmoplantar, with Deafness

Search Clinical Trials , NIH Clinical Center for Keratoderma, Palmoplantar, with Deafness

Genetic Tests for Keratoderma, Palmoplantar, with Deafness

Genetic tests related to Keratoderma, Palmoplantar, with Deafness:

# Genetic test Affiliating Genes
1 Keratoderma Palmoplantar Deafness 30 GJB2

Anatomical Context for Keratoderma, Palmoplantar, with Deafness

MalaCards organs/tissues related to Keratoderma, Palmoplantar, with Deafness:

42
Skin

Publications for Keratoderma, Palmoplantar, with Deafness

Articles related to Keratoderma, Palmoplantar, with Deafness:

# Title Authors Year
1
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. ( 17993581 )
2008
2
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. ( 18787097 )
2008
3
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. ( 16059934 )
2005
4
Hereditary palmoplantar keratoderma with deafness. ( 8736341 )
1996
5
Diffuse palmoplantar keratoderma with deafness. ( 6213205 )
1982

Variations for Keratoderma, Palmoplantar, with Deafness

UniProtKB/Swiss-Prot genetic disease variations for Keratoderma, Palmoplantar, with Deafness:

76
# Symbol AA change Variation ID SNP ID
1 GJB2 p.Arg75Trp VAR_002140 rs104894402
2 GJB2 p.Asp66His VAR_008710 rs104894403
3 GJB2 p.Gly59Ala VAR_009965 rs104894404
4 GJB2 p.Arg75Gln VAR_015936 rs28931593
5 GJB2 p.His73Arg VAR_060799 rs121912968

ClinVar genetic disease variations for Keratoderma, Palmoplantar, with Deafness:

6 (show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894413 GRCh38 Chromosome 13, 20189451: 20189451
2 GJB2 NM_004004.5(GJB2): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894413 GRCh37 Chromosome 13, 20763590: 20763590
3 MT-TS1 m.7445A> G single nucleotide variant Pathogenic rs199474818 GRCh37 Chromosome MT, 7445: 7445
4 MT-TS1 m.7445A> G single nucleotide variant Pathogenic rs199474818 GRCh38 Chromosome MT, 7445: 7445
5 GJB2 NM_004004.6(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
6 GJB2 NM_004004.6(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh38 Chromosome 13, 20189511: 20189511
7 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
8 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh38 Chromosome 13, 20189547: 20189547
9 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
10 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh38 Chromosome 13, 20189443: 20189443
11 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
12 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh38 Chromosome 13, 20189155: 20189155
13 GJB2 NM_004004.5(GJB2): c.167delT (p.Leu56Argfs) deletion Pathogenic rs80338942 GRCh37 Chromosome 13, 20763554: 20763554
14 GJB2 NM_004004.5(GJB2): c.167delT (p.Leu56Argfs) deletion Pathogenic rs80338942 GRCh38 Chromosome 13, 20189415: 20189415
15 GJB2 NM_004004.5(GJB2): c.176G> C (p.Gly59Ala) single nucleotide variant Pathogenic rs104894404 GRCh37 Chromosome 13, 20763545: 20763545
16 GJB2 NM_004004.5(GJB2): c.176G> C (p.Gly59Ala) single nucleotide variant Pathogenic rs104894404 GRCh38 Chromosome 13, 20189406: 20189406
17 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
18 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338945 GRCh38 Chromosome 13, 20189313: 20189313
19 GJB2 NM_004004.5(GJB2): c.109G> A (p.Val37Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72474224 GRCh37 Chromosome 13, 20763612: 20763612
20 GJB2 NM_004004.5(GJB2): c.109G> A (p.Val37Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72474224 GRCh38 Chromosome 13, 20189473: 20189473
21 GJB2 NM_004004.5(GJB2): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs28931593 GRCh37 Chromosome 13, 20763497: 20763497
22 GJB2 NM_004004.5(GJB2): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs28931593 GRCh38 Chromosome 13, 20189358: 20189358
23 GJB2 NM_004004.5(GJB2): c.218A> G (p.His73Arg) single nucleotide variant Pathogenic rs121912968 GRCh37 Chromosome 13, 20763503: 20763503
24 GJB2 NM_004004.5(GJB2): c.218A> G (p.His73Arg) single nucleotide variant Pathogenic rs121912968 GRCh38 Chromosome 13, 20189364: 20189364
25 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh37 Chromosome 13, 20763438: 20763438
26 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh38 Chromosome 13, 20189299: 20189299
27 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh37 Chromosome 13, 20763305: 20763305
28 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh38 Chromosome 13, 20189166: 20189166
29 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh37 Chromosome 13, 20763104: 20763104
30 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh38 Chromosome 13, 20188965: 20188965
31 GJB2 NM_004004.5(GJB2): c.66G> T (p.Lys22Asn) single nucleotide variant Pathogenic rs879253741 GRCh38 Chromosome 13, 20189516: 20189516
32 GJB2 NM_004004.5(GJB2): c.66G> T (p.Lys22Asn) single nucleotide variant Pathogenic rs879253741 GRCh37 Chromosome 13, 20763655: 20763655
33 GJB2 NM_004004.5(GJB2): c.175G> C (p.Gly59Arg) single nucleotide variant Pathogenic rs104894410 GRCh38 Chromosome 13, 20189407: 20189407
34 GJB2 NM_004004.5(GJB2): c.175G> C (p.Gly59Arg) single nucleotide variant Pathogenic rs104894410 GRCh37 Chromosome 13, 20763546: 20763546

Expression for Keratoderma, Palmoplantar, with Deafness

Search GEO for disease gene expression data for Keratoderma, Palmoplantar, with Deafness.

Pathways for Keratoderma, Palmoplantar, with Deafness

GO Terms for Keratoderma, Palmoplantar, with Deafness

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